MCID: SYN001
MIFTS: 48

Syndactyly malady

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Syndactyly

About this section

Aliases & Descriptions for Syndactyly:

Name: Syndactyly 10 47 12 36 24
Chromosome 2q35 Duplication Syndrome 10
Syndactyly, Type I 65
 
Webbing of Digits 10
Symphalangism 10
Symphalangy 10

Classifications:



External Ids:

Disease Ontology10 DOID:11193
ICD1027 Q70, Q70.9
ICD9CM29 755.1
MeSH36 D013576
NCIt42 C87125
UMLS65 C0039075, C1861380

Summaries for Syndactyly

About this section
Wikipedia:68 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a... more...

MalaCards based summary: Syndactyly, also known as chromosome 2q35 duplication syndrome, is related to poland syndrome and apert syndrome. An important gene associated with Syndactyly is HOXD13 (Homeobox D13). Affiliated tissues include skin, brain and bone, and related mouse phenotypes are digestive/alimentary and hearing/vestibular/ear.

Disease Ontology:10 A synostosis that results in the fusion of two or more digits.

Related Diseases for Syndactyly

About this section

Diseases in the Syndactyly family:

Syndactyly, Type V Syndactyly, Type Iii
Syndactyly, Type Iv Syndactyly Type 8
Syndactyly Type 6

Diseases related to Syndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 460)
idRelated DiseaseScoreTop Affiliating Genes
1poland syndrome32.9FGFR2, FGFR3, GLI3
2apert syndrome32.5FGFR2, FGFR3
3lipoma30.2FGFR2, TP63
4syndactyly, type iii12.6
5syndactyly, mesoaxial synostotic, with phalangeal reduction12.6
6syndactyly, type v12.6
7syndactyly, type iv12.6
8cenani-lenz syndactyly syndrome12.5
9brachydactyly-syndactyly syndrome12.4
10ectodermal dysplasia-syndactyly syndrome 112.4
11syndactyly type 612.3
12syndactyly type 812.3
13syndactyly-polydactyly-earlobe syndrome12.2
14ectodermal dysplasia-syndactyly syndrome 212.2
15blepharophimosis with ptosis, syndactyly, and short stature12.2
16ectodermal dysplasia mental retardation syndactyly12.2
17coronal synostosis, syndactyly and jejunal atresia12.2
18ectodermal dysplasia-syndactyly syndrome12.2
19ectodermal dysplasia-cutaneous syndactyly syndrome12.2
20aphalangia partial with syndactyly and duplication of metatarsal iv12.1
21cleft lip palate oligodontia syndactyly pili torti12.1
22eyebrows duplication of, with stretchable skin and syndactyly12.1
23hydrops ectrodactyly syndactyly12.1
24sclerocornea, syndactyly, ambiguous genitalia12.1
25syndactyly cataract mental retardation12.1
26syndactyly ectodermal dysplasia cleft lip palate hand foot12.1
27syndactyly type 1 with cataracts and mental retardation12.1
28tricho odonto onychodysplasia syndactyly dominant type12.1
29aphalangy-syndactyly-microcephaly syndrome12.1
30autosomal dominant trichoodontoonychodysplasia-syndactyly12.1
31eyebrow duplication-syndactyly syndrome12.1
32ptosis-syndactyly-learning difficulties syndrome12.1
33syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome12.1
34fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome12.1
35brachydactyly-syndactyly, zhao type12.1
36star syndrome12.1
37synpolydactyly12.1
38craniosynostosis, philadelphia type12.0
39timothy syndrome11.8
40zygodactyly 111.8
41fraser syndrome11.8
42filippi syndrome11.7
43synpolydactyly, type ii11.7
44zygodactyly type 211.6
45zygodactyly type 311.6
46zygodactyly type 411.6
47cleft lip/palate-ectodermal dysplasia syndrome11.6
48sclerosteosis 111.6
49greig cephalopolysyndactyly syndrome11.5
50zlotogora syndrome11.4

Graphical network of the top 20 diseases related to Syndactyly:



Diseases related to syndactyly

Symptoms for Syndactyly

About this section

Drugs & Therapeutics for Syndactyly

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
4Syndactyly Repair: Comparison of Skin Graft and No Skin Graft TechniquesActive, not recruitingNCT01416090
5Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital CompressionNot yet recruitingNCT02548260

Search NIH Clinical Center for Syndactyly


Cochrane evidence based reviews: syndactyly

Genetic Tests for Syndactyly

About this section

Anatomical Context for Syndactyly

About this section

MalaCards organs/tissues related to Syndactyly:

33
Skin, Brain, Bone, T cells, Lung, Breast, Liver

Animal Models for Syndactyly or affiliated genes

About this section

MGI Mouse Phenotypes related to Syndactyly:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7FGFR2, FGFR3, FRAS1, GLI3, HOXD13, TP63
2MP:00053778.6FGFR2, FGFR3, FREM2, GJA1, GLI3
3MP:00053898.4FGFR2, FGFR3, FREM2, GJA1, GLI3, HOXD13
4MP:00030128.2FBXW4, FGFR2, FGFR3, FRAS1, GJA1, GLI3
5MP:00053807.9FBXW4, FGFR2, FREM2, GJA1, GLI3, GRIP1
6MP:00053827.6FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
7MP:00053847.5BHLHA9, FBN2, FGFR2, FGFR3, FRAS1, GJA1
8MP:00053887.3FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
9MP:00053677.1FGFR2, FGFR3, FRAS1, FREM2, GLI3, GRIP1
10MP:00107717.0FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
11MP:00053856.9FBN2, FGFR2, FRAS1, FREM2, GJA1, GLI3
12MP:00053916.8FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
13MP:00053906.1FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2
14MP:00053785.8FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
15MP:00053715.6BHLHA9, FBN2, FBXW4, FGFR2, FGFR3, FRAS1
16MP:00107685.5FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2

Publications for Syndactyly

About this section

Articles related to Syndactyly:

(show top 50)    (show all 443)
idTitleAuthorsYear
1
Macrolides use and the risk of sudden cardiac death. (27086751)
2016
2
Relationship between EPHX2 gene polymorphisms and essential hypertension in Uygur, Kazakh, and Han. (25966114)
2015
3
Spindle cell variant of ameloblastic carcinoma: a case report and literature review. (26238174)
2015
4
Anaplastic large cell lymphoma, ALK-negative. (22789917)
2013
5
Hypogonadism and neurological diseases. (23292617)
2013
6
Regulatory T cells and other lymphocyte subpopulations in patients with melanoma developing interferon-induced thyroiditis during high-dose interferon-I+2b treatment. (22957689)
2013
7
Mycobacterium leprae DNA in peripheral blood may indicate a bacilli migration route and high-risk for leprosy onset. (24033793)
2013
8
Automatic metaphor processing in adults with Asperger syndrome: a metaphor interference effect task. (24081827)
2013
9
Structures of Down syndrome kinases, DYRKs, reveal mechanisms of kinase activation and substrate recognition. (23665168)
2013
10
Inositol polyphosphate multikinase signaling in the regulation of metabolism. (23050966)
2012
11
Paraoxonase-1 (PON1) status in pancreatic cancer: relation to clinical parameters. (23438848)
2012
12
Improving the standard of care for people with ankylosing spondylitis and a new approach to developing specialist ESP-Led AS clinics. (22778011)
2012
13
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. (22135026)
2012
14
Interplay between mismatch repair and chromatin assembly. (22232658)
2012
15
Phaeohyphomycosis caused by Phaeoacremonium species in a patient taking infliximab. (22243731)
2012
16
Elevated stearoyl-CoA desaturase in brains of patients with Alzheimer's disease. (22046234)
2011
17
Efficient inhibition of ovarian cancer by short hairpin RNA targeting claudin-3. (21519794)
2011
18
VPg-primed RNA synthesis of norovirus RNA-dependent RNA polymerases by using a novel cell-based assay. (21994457)
2011
19
Bone scintigraphy in pulmonary alveolar microlithiasis. (22128621)
2011
20
Human Flt3L generates dendritic cells from canine peripheral blood precursors: implications for a dog glioma clinical trial. (20552015)
2010
21
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. (20308477)
2010
22
Protein-losing enteropathy with mesenteric venous thrombosis: a forme fruste of systemic lupus erythematosus. (19812125)
2009
23
Efficacy and safety of rimonabant for improvement of multiple cardiometabolic risk factors in overweight/obese patients: pooled 1-year data from the Rimonabant in Obesity (RIO) program. (18227491)
2008
24
Malignant nephroblastoma in a common marmoset (Callithrix jacchus). (18192583)
2008
25
Validation of the revised 2008 WHO diagnostic criteria in 75 suspected cases of myeloproliferative neoplasm. (18661406)
2008
26
Differential expression of androgen and estrogen receptor of appendix testis in patients with descended and undescended testes. (18269458)
2008
27
Ectopic ossification of the triceps muscle after application of bone morphogenetic protein-7 to the distal humerus for recalcitrant nonunion: a case report. (17482003)
2007
28
Maternal transplantation of human umbilical cord blood cells provides prenatal therapy in Sanfilippo type B mouse model. (16401642)
2006
29
Apolipoprotein E and alpha brain rhythms in mild cognitive impairment: a multicentric electroencephalogram study. (16358334)
2006
30
Role of the CCAAT/enhancer-binding protein NFATc2 transcription factor cascade in the induction of secretory phospholipase A2. (16500900)
2006
31
Genetic alteration of p53, but not overexpression of intratumoral p53 protein, or serum p53 antibody is a prognostic factor in sporadic colorectal adenocarcinoma. (15586226)
2005
32
The ameliorative effect of dates (Phoenix dactylifera L.) on ethanol-induced gastric ulcer in rats. (15814265)
2005
33
Immune function of C1q and its modulators CD91 and CD93. (16167883)
2005
34
Wild terrestrial rainforest mammals as potential reservoirs for flaviviruses (yellow fever, dengue 2 and St Louis encephalitis viruses) in French Guiana. (15138077)
2004
35
Neonatal neutropenia and bacterial sepsis associated with placental transfer of maternal neutrophil-specific autoantibodies. (15225245)
2004
36
A promoter polymorphism in the CD14 gene is associated with elevated levels of soluble CD14 but not with IgE or atopic diseases. (15080833)
2004
37
Periarticular aneurysm following total knee replacement in hemophilic arthropathy. A case report. (14668517)
2003
38
Differential production of RANTES and MCP-1 in synovial fluid from the inflamed human knee. (11750041)
2002
39
Reduction of postherpetic neuralgia in herpes zoster. (11907852)
2001
40
Recommended nomenclature for the vertebrate alcohol dehydrogenase gene family. (10424757)
1999
41
Case 2. Cholelithiasis of the liver. (10367663)
1999
42
Posttranslational modification of glycosylphosphatidylinositol (GPI)-specific phospholipase D and its activity in cleavage of GPI anchors. (9790979)
1998
43
Probing cellular protein targets of H2O2 with fluorescein-conjugated iodoacetamide and antibodies to fluorescein. (9862437)
1998
44
De novo formation of a central nervous system cavernous malformation: implications for predicting risk of hemorrhage. Case report and review of the literature. (9322853)
1997
45
The amphotropic murine leukemia virus receptor gene encodes a 71- kilodalton protein that is induced by phosphate depletion. (9151850)
1997
46
Elastin cross-linking in the skin from patients with amyotrophic lateral sclerosis. (8301312)
1994
47
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. (8481408)
1993
48
The use of chemically split tissue in the detection of circulating anti-basement membrane zone antibodies in bullous pemphigoid and cicatricial pemphigoid. (3277659)
1988
49
True Congenital Diverticulum of the Trachea in a Subject showing also Right Aortic Arch. (17104257)
1929
50

Variations for Syndactyly

About this section

Expression for genes affiliated with Syndactyly

About this section
Search GEO for disease gene expression data for Syndactyly.

Pathways for genes affiliated with Syndactyly

About this section

GO Terms for genes affiliated with Syndactyly

About this section

Biological processes related to Syndactyly according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:006052710.6FGFR2, HOXD13
2limb morphogenesisGO:003510810.6GLI3, HOXD13
3squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.5FGFR2, TP63
4positive regulation of phospholipase activityGO:001051810.4FGFR2, FGFR3
5embryonic digestive tract morphogenesisGO:004855710.4FGFR2, GLI3
6hair follicle developmentGO:000194210.3LRP4, TP63
7positive regulation of mesenchymal cell proliferationGO:000205310.3FBXW4, FGFR2
8regulation of branching involved in prostate gland morphogenesisGO:006068710.2FGFR2, HOXD13
9in utero embryonic developmentGO:000170110.1FGFR2, GJA1, GLI3
10bone morphogenesisGO:006034910.0FGFR2, FGFR3
11positive regulation of osteoblast differentiationGO:004566910.0GJA1, GLI3, TP63
12limb developmentGO:006017310.0FBXW4, GLI3, LRP4
13bone mineralizationGO:00302829.9FGFR2, FGFR3
14proximal/distal pattern formationGO:00099549.7GLI3, LRP4, TP63
15heart developmentGO:00075079.7FREM2, GJA1, GLI3
16anatomical structure formation involved in morphogenesisGO:00486469.7GLI3, TP63
17embryonic digit morphogenesisGO:00427339.5FBXW4, GJA1, GLI3, HOXD13, LRP4
18embryonic limb morphogenesisGO:00303268.3FBN2, FBXW4, FRAS1, GLI3, TP63

Molecular functions related to Syndactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3

Sources for Syndactyly

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet